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963 results

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Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Lalani SR, et al. Among authors: austin e. Am J Hum Genet. 2014 Nov 6;95(5):579-83. doi: 10.1016/j.ajhg.2014.09.014. Epub 2014 Oct 16. Am J Hum Genet. 2014. PMID: 25439098 Free PMC article.
De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.
Probst FJ, James RA, Burrage LC, Rosenfeld JA, Bohan TP, Ward Melver CH, Magoulas P, Austin E, Franklin AI, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont JW, Ware SM, Shaw C, Cheung SW, Lalani SR. Probst FJ, et al. Among authors: austin e. Orphanet J Rare Dis. 2015 Jun 14;10:75. doi: 10.1186/s13023-015-0291-0. Orphanet J Rare Dis. 2015. PMID: 26070612 Free PMC article.
State of the art review in gonadal dysgenesis: challenges in diagnosis and management.
McCann-Crosby B, Mansouri R, Dietrich JE, McCullough LB, Sutton VR, Austin EG, Schlomer B, Roth DR, Karaviti L, Gunn S, Hicks MJ, Macias CG. McCann-Crosby B, et al. Among authors: austin eg. Int J Pediatr Endocrinol. 2014;2014(1):4. doi: 10.1186/1687-9856-2014-4. Epub 2014 Apr 14. Int J Pediatr Endocrinol. 2014. PMID: 24731683 Free PMC article.
SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome.
Mullen MP, Ivy DD, Varghese NP, Winant AJ, Cortes-Santiago N, Vargas SO, Porres D, Maschietto N, Critser PJ, Hirsch R, Avitabile CM, Hopper RK, Frank BS, Coleman RD, Agrawal PB, Madden JA, Roberts AE, Collins SL, Raj JU, Austin ED, Chung WK, Abman SH. Mullen MP, et al. Among authors: austin ed. J Pediatr. 2024 Nov 26;278:114422. doi: 10.1016/j.jpeds.2024.114422. Online ahead of print. J Pediatr. 2024. PMID: 39603521
963 results